B6;129P2-Gjb2tm2.1Kwi/Cnrm

Status

Available to order

EMMA IDEM:05215
International strain nameB6;129P2-Gjb2tm2.1Kwi/Cnrm
Alternative nameCx26floxS17F
Strain typeTargeted Mutant Strains : Conditional mutation
Allele/Transgene symbolGjb2tm2.1Kwi,
Gene/Transgene symbolGjb2

Information from provider

ProviderKlaus WILLECKE
Provider affiliationMolekulargenetik, Institut fuer Genetik, Universitaet Bonn
Genetic informationIn this mouse line the Cx26 (Gjb2) coding DNA can be replaced by the Cx26S17F point mutated DNA followed by IRES-eGFP DNA, after cre-mediated recombination. The point mutated Cx26 DNA and the reporter gene are controlled by the endogenous Cx26 promoter.
Phenotypic informationThe floxed allele codes for the expression of a non-mutated (wild-type) Cx26 protein. Thus, the homozygous floxed mice are viable and fertile. After cre recombinase-mediated deletion the homozygous mutants are not viable, whereas the surviving heterozygous mice (flox/+) show hyperplasia of tail and foot epidermis, wounded tails and annular tail restrictions, and are smaller than their wild-type littermates. Analyses of auditory brainstem responses (ABRs) indicate a ca. 35 dB increased hearing threshold in these mice, which is likely due to the reduction of the endocochlear potential by 20-40% (see Schütz et al., 2011).
Breeding historyFounder animals were backcrossed to C57BL/6 more than three times (more than 87.5%).
References
  • The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome.;Schütz Melanie, Auth Tanja, Gehrt Anna, Bosen Felicitas, Körber Inken, Strenzke Nicola, Moser Tobias, Willecke Klaus, ;2011;Human molecular genetics;20;28-39; 20926451
  • Altered epidermal lipid processing and calcium distribution in the KID syndrome mouse model Cx26S17F.;Bosen Felicitas, Celli Anna, Crumrine Debra, vom Dorp Katharina, Ebel Philipp, Jastrow Holger, Dörmann Peter, Winterhager Elke, Mauro Theodora, Willecke Klaus, ;2015;FEBS letters;589;1904-10; 26070424
Homozygous fertileyes
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisednot known

Information from EMMA

Archiving centreCNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (allele matching)
  • no phenotypic analysis / MGI

Literature references

  • The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome.;Schütz Melanie, Auth Tanja, Gehrt Anna, Bosen Felicitas, Körber Inken, Strenzke Nicola, Moser Tobias, Willecke Klaus, ;2011;Human molecular genetics;20;28-39; 20926451
  • Altered epidermal lipid processing and calcium distribution in the KID syndrome mouse model Cx26S17F.;Bosen Felicitas, Celli Anna, Crumrine Debra, vom Dorp Katharina, Ebel Philipp, Jastrow Holger, Dörmann Peter, Winterhager Elke, Mauro Theodora, Willecke Klaus, ;2015;FEBS letters;589;1904-10; 26070424

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

  • Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740*
  • Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

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